Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.H565Q

VPS35

675 papers

RefSeq Summary

This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of...

Pfam Domains

Vps35aa 15–753UCSCVacuolar protein sorting-associated protein 35

Gene Aliases

HGNC Name

VPS35 retromer complex component

HGNC Alias Symbols

FLJ10752; MEM3; PARK17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018206.6
p.H565Q
c.1695C>G
Surrounding Variants
1 paper
NM_018206.6
p.H565Q
c.1695C>A
19 papers
NM_018206.6
p.I560T
c.1679T>C
1 paper
NM_018206.6
p.K559R
c.1676A>G
1 paper
NM_018206.6
p.K559Q
c.1675A>C
1 paper
NM_018206.6
p.K556R
c.1667A>G
1 paper
NM_018206.6
p.E575D
c.1725G>T
1 paper
NM_018206.6
p.K555N
c.1665G>T
1 paper
NM_018206.6
p.K555N
c.1665G>C
1 paper
NM_018206.6
p.K555R
c.1664A>G
1 paper
NM_018206.6
p.A577S
c.1729G>T
1 paper
NM_018206.6
p.E578*
c.1732G>T
1 paper
NM_018206.6
p.A591T
c.1771G>A
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